Clinical characteristics | Patient 1 | Patient 2 | Patient 3 |
---|---|---|---|
Age | 34 | 28 | 14 |
Sex | Female | Male | Female |
Copies of SMN2 gene | 3 | 3 | 3 |
SMA subtype | 3a | 2a | 3a |
Delivery mode | Natural labor | Natural labor | Natural labor |
Cobb angle (°) | 106 | 130 | 103 |
Ambulation | Wheelchair-bound | Wheelchair-bound | Travel short distances with assistance |
Positive signs | Symmetric severe muscle weakness and wasting; tongue atrophy with fasciculations; areflexia; quadriparesis; joint contractures and ankylosis of the limbs | Symmetric severe muscle weakness and wasting; tongue atrophy with fasciculations; areflexia; joint contractures and ankylosis of the limbs | Proximal weakness affecting the legs; tongue atrophy; areflexia; joint contractures and ankylosis of both feet |
Procedures (no.) | 5 | 5 | 5 |
Need for sedation per procedure (N or Y) | N/N/N/N/N | N/N/N/N/N | N/N/N/N/N |
Number of interspace level adjustments per procedure | 2/2/1/1/1 | 2/1/1/1/1 | 1/1/1/1/1 |
Number of total insertion attemptsa per procedure | 5/3/2/2/1 | 3/2/2/1/1 | 2/2/1/1/1 |
Final interspace level at which lumbar injection was done per procedure | L5–S1/L4–L5/L4–L5/L4–L5/L4–L5 | L4–L5/L4–L5/L4–L5/L4–L5/L4–L5 | L4–L5/L4–L5/L4–L5/L4–L5/L4–L5 |
Operation timeb (min) | 66/59/34/35/30 | 67/45/33/31/28 | 58/50/40/35/32 |
Puncture timec (min) | 23/15/8/6/3 | 16/10/9/3/3 | 18/12/7/4/3 |
Puncture distanced (cm) | 8.1/7.8/7.9/7.5/7.7 | 8.8/8.3/8.9/9.0/8.5 | 7.3/7.7/7.5/7.0/6.8 |
Pretreatmente signs and symptoms | Quadriparesis; preserved hand fine motor functioning to use computer and write; mild dysarthria; able to brush her teeth | Quadriparesis; preserved hand motor functioning to use mouse but still has difficulty in typing | Preserved upper extremity functioning to feed herself, brush her teeth, use mobile phone, write, and do schoolwork |
Posttreatmentf signs and symptoms | Louder voice; increased upper limb strength; improved endurance and head control; able to lift her left foot off the bed; once able to turn over autonomously | Louder voice; improved masticatory movement; able to play computer games; slight movement of feet | Independent kneeling position and crawl one to two steps; able to sit up on her own; caregivers reported easier to facilitate the patient with walking |
Hammersmith Functional Motor Scale-Expanded score (before the first/after the last nusinersen treatment) | 1/7 | 0/2 | 23/34 |
Adverse eventsg | No | No | Headache and nausea |